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108 entries on 2 pages. Showing entries 1 - 100.
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ID     
AscendingAbbreviation     
Name     
OMIM ID     
Inheritance     
Individuals     
Phenotypes     
Associated with genes
Associated tissues
Disease features
00230 ADNM Adenoma - - 20 26 - - -
00190 AGCa Adrenal Gland Cancer - - 7 7 - adrenal gland -
00176 ALL Acute Lymphoblastic Leukemia 613065 - 5 3 - - -
00033 AML Acute Myeloid Leukemia 601626 - 5 5 CEBPA, GATA2, KIT, NSD1, RUNX1 bone marrow -
00225 AoVCa Ampulla of Vater cancer - - 2 2 - - -
00215 AppCa Appendiceal cancer - - 3 3 - - -
00210 BBT Benign brain tumor - - 24 27 - - -
00227 BKT Benign kidney tumor - - 6 6 - - -
00180 BladCa Bladder Cancer 109800 - 23 20 - urinary bladder -
00222 BloodCa Blood Cancer - - 3 4 - - -
00249 BonMal Bone malformation - - 1 1 - - -
00191 BrainCa Brain Cancer - - 20 20 - brain -
00001 BrCa Breast Cancer 114480 - 4048 4505 ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NTHL1, PALB2, RAD51C, RAD51D, TP53 breast -
00122 BROVCA3 Breast-ovarian cancer, familial, susceptibility to, 3 613399 - 0 15 RAD51C - -
00221 CAL Café au Lait spots - - 21 22 - - -
00173 CC Cervical cancer 603956 - 13 10 - cervix, uterine -
00203 CerPol Cervical Polyps - - 1 1 - - -
00193 CHL Classic Hodgkin's Lymphoma 236000 - 8 7 - - -
00196 CHLC Cholangiocarcinoma 615619 - 1 1 - - -
00032 CMM2 Melanoma, cutaneous malignant, 2 155601 - 6 6 CDKN2A skin -
00027 CMM3 Melanoma, cutaneous malignant, 3 609048 - 19 20 CDK4 skin -
00199 ColPol Colon polyps - - 134 140 - - -
00153 CRC Colorectal cancer 114500 - 231 239 TP53 - -
00228 CS Carcinosarcoma - - 1 1 - - -
00205 CUP Cancer of Unknown Primary - - 6 5 - - -
00117 CWS1 Cowden syndrome 1 158350 - 6 6 PTEN - -
00250 DesCa Desmoid Cancer - - 1 1 - - -
00174 DFS Dermatofibrosarcoma protuberans 607907 - 1 1 - skin -
00242 DuoCa Duodenal Cancer - - 4 4 - - -
00097 ENC Endometrial cancer, familial 608089 - 102 101 MSH6 - -
00182 ENDO Endometriosis 131200 - 1 1 - - -
00204 EnPol Endometrial polyps - - 20 13 - - -
00212 Epend Ependymoma - - 1 1 - - -
00188 EsCa Esophageal Cancer 133239 - 1 1 - esophagus -
00232 F Fibromas - - 4 4 - - -
00061 FANCA Fanconi anemia, complementation group A 227650 - 1 1 FANCA - -
00244 FibFol Fibrofolliculomas - - 4 4 - - -
00186 FM-SR Fibromyxoid Sarcoma - - 1 1 - - -
00202 GaPol Gastric Polyps - - 20 14 - - -
00084 GIST Gastrointestinal stromal tumor 606764 - 8 8 KIT, SDHB, SDHC - -
00015 GLM3 Glioblastoma 3 613029 - 7 7 BRCA2 - -
00195 GynCa Gynecological Cancer - - 1 1 - cervix, uterine;ovary;vagina -
00217 HepBl Hepatoblastoma - - 1 1 - - -
00235 HIR Hirschsprung's - - 2 2 - - -
00247 HMGM Hemangioma  - - 12 13 - - -
00192 HNSCC Head and Neck Cancer 275355 - 8 8 - nasopharynx -
00240 HypPT Hyperparathyroidism - - 16 16 - - -
00237 JK Jaw keratocysts - - 1 1 - - -
00183 LeioM Leiomyosarcoma - - 3 2 - - -
00259 Les Lesions - - 1 1 - - -
00219 LiCa Liver Cancer - - 2 2 - - -
00233 LM Leiomyoma - - 1 1 - - -
00185 LPSRCM Liposarcoma 613488 - 2 2 - - -
00044 LuCa Lung Cancer 211980 - 21 19 EGFR lung -
00252 LunLes Lung lesions - - 5 5 - - -
00216 LymphoSRCM Lymphosarcoma - - 1 1 - - -
00016 MDB Medulloblastoma 155255 - 5 5 BRCA2, SUFU - -
00248 MenDis Menetrier disease - - 1 1 - - -
00206 MF Myelofibrosis 254450 - 2 1 - - -
00172 MM Multiple Myeloma 254500 - 2 2 - - -
00209 MNGM Meningioma - - 13 15 - - -
00031 MPCS Pancreatic cancer/melanoma syndrome 606719 - 0 2 CDKN2A pancreas;skin -
00194 MXM Myxoma - - 1 1 - - -
00223 NDL Nodules - - 14 14 - - -
00226 NF Neurofibromas - - 14 14 - - -
00101 NF1 Neurofibromatosis, type 1 162200 - 1 2 NF1 - -
00110 NHL Lymphoma, non-Hodgkin 605027 - 14 12 PRF1 - -
00236 OBT Other benign tumor - - 24 25 - - -
00238 OC Osteochondroma - - 1 1 - - -
00155 OSRC Osteosarcoma 259500 - 7 6 TP53 - -
00171 OVCA Ovarian Cancer 167000 - 1019 1003 SMARCA4 ovary -
00175 OvTer Ovarian Teratoma 166950 - 2 2 - ovary -
00147 PANCA Pancreatic cancer 260350 - 17 17 STK11 - -
00239 PanLes Pancreatic lesions - - 10 10 - - -
00218 PCV Polycythemia vera - - 1 1 - - -
00246 PD Poikiloderma - - 1 1 - - -
00231 PerCa Peritoneal cancer - - 2 2 - - -
00181 PFTC Fallopian Tube Cancer - - 1 1 - fallopian tube -
00135 PGL2 Paragangliomas 2 601650 - 12 12 SDHAF2, SDHB - -
00136 PGL4 Paragangliomas 4 115310 - 2 3 SDHB - -
00087 Pheo Pheochromocytoma, susceptibility to 171300 - 23 23 MAX, RET, SDHB, SDHD, TMEM127, VHL - -
00148 PJS Peutz-Jeghers syndrome 175200 - 15 3 STK11 - -
00017 PNCA2 Pancreatic cancer 2 613347 - 141 138 BRCA2 pancreas -
00214 Polyposis Polyposis - - 135 144 - - -
00040 PPB Pleuropulmonary blastoma 601200 - 1 1 DICER1 lung -
00018 PrCa Prostate cancer 176807 - 60 52 BRCA2, CDH1, CHEK2 prostate -
00075 PSP Pneumothorax, primary spontaneous 173600 - 1 1 FLCN - -
00124 RB1 Retinoblastoma 180200 - 1 1 RB1 eyes -
00080 RCC Renal cell carcinoma 144700 - 58 60 HNF1A kidney -
00251 RenLes Kidney lesions - - 12 15 - - -
00041 RMSE2 Rhabdomyosarcoma, embryonal, 2 180295 - 2 2 DICER1 - -
00213 RMSRCM Rhabdomyosarcoma - - 2 3 - - -
00211 Schw Schwannoma - - 5 7 - - -
00224 SCT Spinal cord tumor - - 6 6 - - -
00177 SIC Small Intestine Cancer - - 10 9 - small intestine -
00179 SIPol Small Intestine Polyps - - 15 2 - - -
00178 SkCa Skin Cancer - - 17 16 - skin -
00243 SponPneum Spontaneous Pneumothorax - - 1 1 - - -
00184 SRCM Sarcoma - - 7 7 - - -
00220 TestCa Testicular cancer - - 1 1 - - -
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